"Posterior Predominant Lissencephaly"[Disease/phenotype] AND "Universi - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 872893	NM_001042475.3(CEP85L):c.232+5G>A	CEP85L	Single nucleotide variant (intron variant)	Posterior Predominant Lissencephaly +1 more	GPathogenic/Likely pathogenic
Select item 872892	NM_001042475.3(CEP85L):c.232+3G>T	CEP85L	Single nucleotide variant (intron variant)	Posterior Predominant Lissencephaly +1 more	GPathogenic/Likely pathogenic
Select item 979037	NM_001042475.3(CEP85L):c.232+1G>T	CEP85L	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GPathogenic
Select item 979036	NM_001042475.3(CEP85L):c.205G>A (p.Gly69Arg)	CEP85L (G69R +1 more)	Single nucleotide variant (missense variant)	Posterior Predominant Lissencephaly	GLikely pathogenic
Select item 872891	NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr)	CEP85L (I68T +1 more)	Single nucleotide variant (missense variant)	Posterior Predominant Lissencephaly +1 more	GPathogenic/Likely pathogenic
Select item 872890	NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)	CEP85L (D65N +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GLikely pathogenic
Select item 979032	NM_001042475.3(CEP85L):c.172A>T (p.Ser58Cys)	CEP85L (S58C +1 more)	Single nucleotide variant (missense variant)	Posterior Predominant Lissencephaly	GLikely pathogenic
Select item 872889	NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr)	CEP85L, LOC129997071 (M1T)	Single nucleotide variant (missense variant +2 more)	Lissencephaly 10	GPathogenic
Select item 979031	NM_001042475.3(CEP85L):c.1A>T (p.Met1Leu)	CEP85L, LOC129997071 (M1L)	Single nucleotide variant (missense variant +2 more)	Posterior Predominant Lissencephaly	GLikely pathogenic